loading...| Preferred Name |
Peroxisomal Disorders |
|
| Synonyms |
Acidemia, Hyperpipecolic Single Peroxisomal Dysfunctions |
|
| Definitions |
A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D018901 |
|
| altLabel |
Acidemia, Hyperpipecolic Adrenoleukodystrophy, Autosomal Neonatal Form Dysfunctions, Multiple Peroxisomal Peroxisomal Dysfunction, Single Neonatal Adrenoleukodystrophy Peroxisomal Disorder Single Peroxisomal Dysfunction Multiple Peroxisomal Dysfunctions Peroxisomal Dysfunctions, General Peroxisomal Dysfunctions, Single Hyperpipecolatemia Peroxisomal Dysfunctions, Multiple Dysfunction, General Peroxisomal Adrenoleukodystrophies, Neonatal Peroxisomal Dysfunction, Multiple Dysfunctions, General Peroxisomal Neonatal Adrenoleukodystrophies Adrenoleukodystrophy, Neonatal Peroxisomal Dysfunction, General Acidemias, Hyperpipecolic Multiple Peroxisomal Dysfunction Hyperpipecolic Acidemia Dysfunctions, Single Peroxisomal General Peroxisomal Dysfunction Dysfunction, Single Peroxisomal Hyperpipecolic Acidemias General Peroxisomal Dysfunctions Dysfunction, Multiple Peroxisomal Adrenoleukodystrophy, Autosomal, Neonatal Form Single Peroxisomal Dysfunctions |
|
| AN |
general or unspecified; prefer specifics; do not confuse entry term ADRENOLEUKODYSTROPHY, NEONATAL with ADRENOLEUKODYSTROPHY |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C0282526 C0751710 C0751708 C0282528 C0282525 C0751709 |
|
| DC |
1 |
|
| definition |
A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders. |
|
| DX |
19960101 |
|
| HN |
1996 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO | ||
| Machine permutation |
1996 |
|
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C566634 http://purl.bioontology.org/ontology/MESH/C566635 http://purl.bioontology.org/ontology/MESH/C566633 http://purl.bioontology.org/ontology/MESH/C566626 http://purl.bioontology.org/ontology/MESH/C566625 http://purl.bioontology.org/ontology/MESH/C566624 http://purl.bioontology.org/ontology/MESH/C535444 http://purl.bioontology.org/ontology/MESH/C566405 http://purl.bioontology.org/ontology/MESH/C566406 http://purl.bioontology.org/ontology/MESH/C563301 http://purl.bioontology.org/ontology/MESH/C536664 http://purl.bioontology.org/ontology/MESH/C566568 http://purl.bioontology.org/ontology/MESH/C566569 http://purl.bioontology.org/ontology/MESH/C566388 http://purl.bioontology.org/ontology/MESH/C566387 http://purl.bioontology.org/ontology/MESH/C566422 |
|
| MDA |
19941227 |
|
| MMR |
20150608 |
|
| MN |
C16.320.565.663 C18.452.648.663 |
|
| notation |
D018901 |
|
| prefLabel |
Peroxisomal Disorders |
|
| TERMUI |
T369866 T056329 T812298 T056335 T369867 T056330 T745635 T369865 T752049 T812299 |
|
| TH |
NLM (1996) OMIM (2013) NLM (2000) NLM (2012) NLM (2010) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |